Hereditary spastic paraplegia associated with thin corpus callosum

Area of Science:

• Neurology
• Genetics

Background:

• Autosomal recessive hereditary spastic paraplegia (AR-HSP) with thin corpus callosum is a rare genetic neurological disorder.
• The condition has been primarily described in Japanese populations, with most families linked to chromosome 15q13-15.

Observation:

• Two Brazilian patients from different families presented with progressive gait disturbance, spastic paraparesis, and mental deterioration, with onset in their second decade.
• One patient also exhibited cerebellar ataxia.
• Head MRI scans revealed a thin corpus callosum in both patients.

Findings:

• This report documents AR-HSP with thin corpus callosum in two Caucasian patients from Brazil.
• The literature review identified only four previously described Caucasian families with this condition.

Implications:

• The findings suggest that AR-HSP with thin corpus callosum may occur in Caucasian populations beyond the previously reported cases.
• Further genetic studies involving additional Caucasian families are necessary to understand the genetic profile of this syndrome in Western countries.